About one in every 500 men in the general population may carry additional chromosomes From British biobank

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A comprehensive genetic analysis of more than 200000 men found that about one in every 500 people carried extra sex chromosomes, which most of them did not know. This ratio is much higher than previously thought, and it seems to increase their risk of diseases such as diabetes and cardiovascular problems.

The new discovery comes from data collected by the UK Biobank project, which has comprehensively tracked the health and genetic data of 500000 participants over the years. In this study, researchers from the University of Cambridge and the University of Exeter analyzed the genetic data of 200000 men in the biobank database to find the universality of extra sex chromosomes.

The sex chromosome is characterized by X or y. as the name suggests, the sex chromosome is responsible for the differences between biological sexes. Generally, women have two X chromosomes, while men usually have one X chromosome and one Y chromosome, but this is not always the case.

In the new study, scientists found 213 men with extra X chromosomes and 143 men with extra Y chromosomes among the 200000 men studied. Considering the overall health status of participants in the biobank, the research team calculated that in the general population, about every 500 men may carry an additional sex chromosome, which is much higher than previously thought.

Most of the men in the study showed no signs of abnormalities in their medical records. Of the 213 people with additional X chromosomes, only 49 (or 23%) were diagnosed with the disease, also known as Klinefelter syndrome. It is usually manifested as infertility or delayed puberty, which can be found and diagnosed at that time, but is often ignored. At the same time, of 143 men with extra Y chromosomes, only one was diagnosed because there were fewer extrinsic signs of this condition.

The researchers then investigated the health status of these men and compared them with other populations in the biobank. Men with the XXY chromosome had significantly lower testosterone levels in their blood, a three fold higher risk of delayed puberty and a four fold higher likelihood of childlessness, indicating infertility. On the other hand, men with XYY chromosome seem to have normal reproductive function.

The researchers found that men with extra copies of either chromosome had a higher risk of other diseases. They were three times more likely to have type 2 diabetes, six times more likely to have venous thrombosis, three times more likely to have pulmonary embolism, and four times more likely to have chronic obstructive pulmonary disease.

The team said they were not sure why additional staining would increase these risks, or why the two types of risks were similar. However, further research can help answer these questions and whether it is useful to start additional chromosome screening for people as a potential way to prevent related diseases.

Zhaoyajie, the first author of the study, said: “even if a considerable number of men carry extra sex chromosomes, few of them may be aware of this. This extra chromosome means that their risk of some common metabolic, vascular and respiratory diseases is greatly increased – these diseases may be preventable.”

The study was published in the journal medical genetics.

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